Acads^del-J
Spontaneous Allele Detail

Summary

• Symbol: Acads^del-J
• Name: acyl-Coenzyme A dehydrogenase, short chain; deletion, Jackson
• MGI ID: MGI:3029768
• Synonyms: Bcd-1^c, Scad
• Gene: Acads Location: Chr5:115248358-115257405 bp, - strand Genetic Position: Chr5, 55.99 cM
• Alliance: Acads^del-J page

Mutation origin

• Strain of Origin: BALB/cByJ

Mutation description

• Allele Type: Spontaneous (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: A 278bp deletion occurs which starts in intron "A" and includes exon "B" and the first 78bp of exon "C". As a result of this deletion, mRNA transcription is reduced to about 35% of normal and includes two forms, a longer normal length transcript and a shorter misspliced form. If these mRNAs were translated they both would result in truncated products. Protein product is undetectable immunologically and there is a total absence of enzyme activity. (J:12776, J:50729)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Acads Mutation: 24 strains or lines available

References

• Original: J:14707 Wood PA, et al., Short-chain acyl-coenzyme A dehydrogenase deficiency in mice. Pediatr Res. 1989 Jan;25(1):38-43
• All: 22 reference(s)